Results 111 to 120 of about 34,485 (311)

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Karbonmonoksit Zehirlenmesine Bağlı Bir Geç Ensefalopati Olgusunda Nöropsikiyatrik Bulgular

Psychiatry and Clinical Psychopharmacology, 2021
Carbon monoxide intoxication induced delayed anoxic encephalopathy: A case report Carbon monoxide (CO) intoxication can be a deadly condition and it is a very common public health problem in Turkey due to coal stoves that are used in winter at homes ...
Emre Sargın, Hava Dönmez, Sibel Örsel, Tahir Kurtuluş Yoldaş   +3 more
doaj  

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Developmental hypomyelination in Wolfram syndrome: New insights from neuroimaging and gene expression analyses [PDF]

, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Dougherty, Joseph, Hershey, Tamara, Marshall, Bess, Neyman, Olga, Park, Ki Yun, Rahn, Rachel, Samara, Ahmad, Samara, Amjad   +7 more
core   +1 more source

The clinical- and cost-effectiveness of functional electrical stimulation and ankle-foot orthoses for foot drop in Multiple Sclerosis: a multicentre randomized trial [PDF]

, 2019
Objective: To compare the clinical- and cost-effectiveness of ankle-foot orthoses (AFOs) and functional electrical stimulation (FES) over 12 months in people with Multiple Sclerosis with foot drop.
Bowers, Roy, Lord, Anna C., Mattison, Paul, McFadyen, Angus, Mosley, Owen, Paul, Lorna, Rafferty, Danny, Renfrew, Linda (Miller)   +7 more
core   +2 more sources

Clustering Approaches for Gait Analysis within Neurological Disorders: A Narrative Review

Digital Biomarkers
Background: The prevalence of neurological disorders is increasing, underscoring the importance of objective gait analysis to help clinicians identify specific deficits. Nevertheless, existing technological solutions for gait analysis often suffer from impracticality in daily clinical use, including excessive cost, time constraints, and limited ...
Hummel, Jonas, Schwenk, Michael, Seebacher, Daniel, Barzyk, Philipp, Liepert, Joachim, Stein, Manuel   +5 more
openaire   +4 more sources

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Clinical analysis of balance and gait disorders after subthalamic nucleus deep brain stimulation in patients with Meige's syndrome

Chinese Journal of Contemporary Neurology and Neurosurgery, 2020
Objective To summarize and analyze the data of postural balance and gait disorders in patients with Meige's syndrome (MS) who underwent subthalamic nucleus deep brain stimulation (STN ⁃ DBS).
Ning WANG, Xiao⁃song WANG, Yu⁃peng GUO, Zong⁃hui FU, Guo⁃qiang CHEN, Lin WANG   +5 more
doaj  

Revisiting protein aggregation as pathogenic in sporadic Parkinson and Alzheimer diseases. [PDF]

, 2019
The gold standard for a definitive diagnosis of Parkinson disease (PD) is the pathologic finding of aggregated α-synuclein into Lewy bodies and for Alzheimer disease (AD) aggregated amyloid into plaques and hyperphosphorylated tau into tangles.
Brundin, P, Cambi, F, Espay, AJ, Fasano, A, Fernandez, HH, Gan-Or, Z, Greenamyre, JT, Josephs, KA, Kauffman, MA, Lang, AE, Leverenz, JB, Litvan, I, Marsili, L, Mata, IF, Merola, A, Morgante, F, Perry, G, Sardi, SP, Savica, R, Schwarzschild, MA, Sherer, T, Simon, DK, Standaert, DG, Tanner, CM, Vizcarra, JA, Yamasaki, TR, Zabetian, CP   +26 more
core   +3 more sources